Open AccessThree novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
Author(s) -
Gergely Losonczy,
Nurit Rosenberg,
Zoltán Boda,
György Vereb,
János Kappelmayer,
Hagit Hauschner,
Zsuzsanna Bereczky,
László Muszbek
Publication year - 2007
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.10847
Subject(s) - thrombasthenia , glanzmann's thrombasthenia , nonsense mutation , endoplasmic reticulum , mutation , platelet , platelet membrane glycoprotein , glycoprotein , transfection , microbiology and biotechnology , gene , golgi apparatus , chemistry , biology , genetics , immunology , missense mutation , platelet aggregation
In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C->G/p.Leu116Val, c.1772_1773insG/p.Asp560GlyfsX16 and c.2438C->A/p.His782Asn). p.Leu116Val did not represent a causative mutation. The c.1772_1773insG mutation resulted in an early stop codon and non-sense mediated decay of mRNA. When expressed in transfected BHK cells, the truncated protein was unable to form complex with GPIIIa. The p.His782Asn mutation compromised transport of the pro-GPIIb/IIIa complex from the endoplasmic reticulum to the Golgi, hindering its maturation and surface expression.